MPS and Peroxisomal Disorders Flashcards
Heparin sulphate abundant in ___
Brain
Keratin sulphate abundant in___
Skeleton
Derma tan sulphate abundant in___
Skeleton
MPS I called ____
Hurler Syndrome
MPS I Features
Umbilical Hernia Upper Resp Infections Coarse Facial Features; Corneal Clouding Dysostkosis Multiplex Dev delay
MPS I Inheritance and Gene
AR, IDUA
MPS I, 2 forms of treatment
HSCT
ERT
MPS II called ____
Hunter Syndrome
MPS II Features
Umbilical Hernia Upper Resp Infections Coarse facial features No corneal clouding* Dysostkosis multiplex Dev delay
MPS II inheritance and gene
AR; IDS
MPS II Treatment
HSCT
ERT
MPS III called ____
Sanfillippo Syndrome
MPS III Features
Behaviour changes
Progressive neurodegeneration
No organomegaly/clouding
MPS III inheritance and genes
AR, 4 genes
MPS IV called ____
Morquio Syndrome
MPS IV Features
Skeletal findings- short stature Corneal clouding Valvular heart disease Hearing impairment Resp. insufficiency
MPS IV inheritance and genes
AR; GALNS
MPS IV Treatment
ERT
Orthopedic
MPS VI called ___
Marateuax-Lamy
MPS VI Features
Short stature Progressive facial coarsening Corneal clouding Cardioresp. disease Organomegaly Dysostosis multiplex
MPS VI inheritance and gene
AR; ARSB
MPS VII called ____
Sly Syndrome
MPS VII Features
Dysostkosis Multiplex Organomegaly Coarse Features Neurodegeneration Corneal Clouding
MPS VII inheritance and gene
AR; GUSB
2 categories of Peroxisomal Disorders
Peroxisome Biogenesis Disorders
Isolated Enzyme Defects
X-Linked Adrenoleukodystrophy inheritance and gene
XLR; ABCD1
XL-ALD Features
Males initially normal
Develop behaviour, school problems, vision loss
Rapid neurodegeneration
Forms of XL-ALD
Childhood Cerebral Leukodystrophy
Adrenomyeloneuropathy
Isolated Addisons
XL-ALD Treatments
Corticosteroid Replacement
HSCT/BMT
Lorenzo’s oil
Zellweger Syndrome Spectrum 3 major phenotypes
Zellweger Syndrome
Neonatal adrenoleukodystrophy
Infantile Refsum Disease
Zellweger Syndrome inheritance and genes
AR, PEX
Zellweger Syndrome Features
Hypotonia Seizures FTT Liver cysts and dysfunction Chondrodysplasia Punctata Dev. stagnation Dysmorphism
Zellweger Treatment
Supportive Only
